Key result
Genetic analysis of seven Chinese patients with distal myopathy with rimmed vacuoles identified eight GNE mutations, including three novel mutations (c.455_456insC, p.P421L, and p.A287T).
Observational (n=7)
No
The study expands the mutational spectrum of the GNE gene in Chinese patients with distal myopathy with rimmed vacuoles by identifying three novel mutations.
Reports GNE variants in seven cases; leaves open phenotypic spectrum and generalizability pending larger cohorts.
Distal myopathy with rimmed vacuoles (DMRV) is a rare, autosomal, recessive inherited disease caused by mutations in the GNE gene. DMRV is an adult-onset disorder characterized by progressive muscle atrophy and weakness, which initially involves the distal muscles with quadriceps sparing. To date, >150 GNE mutations have been reported in different populations from around the world. The present study investigated the clinical, pathological and genetic characteristics of seven unrelated DMRV patients from China. Genetic analysis in these patients revealed three novel mutations (c.455_456insC, p.P421L, and p.A287T) and five previously reported mutations (p.D207V, p.C44S, p.G576R, p.A669P, and p.D218G). In addition, the literature on DMRV was reviewed to provide an overview of the disease and broaden the mutational spectrum of the GNE gene in China.
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Su et al. (2018) conducted an observational in Distal myopathy with rimmed vacuoles (DMRV) (n=7). GNE gene mutations was evaluated on Identification of GNE gene mutations and clinical/pathological features. Genetic analysis of seven Chinese patients with distal myopathy with rimmed vacuoles identified eight GNE mutations, including three novel mutations (c.455_456insC, p.P421L, and p.A287T).
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